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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for TULP3 |
 Gene summary |
| Gene information | Gene symbol | TULP3 | Gene ID | 7289 |
| Gene name | tubby like protein 3 | |
| Synonyms | TUBL3 | |
| Cytomap | 12p13.33 | |
| Type of gene | protein-coding | |
| Description | tubby-related protein 3 | |
| Modification date | 20180523 | |
| UniProtAcc | O75386 | |
| Context | PubMed: TULP3 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| TULP3 | GO:0008277 | regulation of G-protein coupled receptor protein signaling pathway | 20889716 |
| TULP3 | GO:0045879 | negative regulation of smoothened signaling pathway | 20889716 |
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Exon skipping events across known transcript of Ensembl for TULP3 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for TULP3 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for TULP3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_79108 | 12 | 3018694:3018746:3029928:3030088:3031427:3031568 | 3029928:3030088 | ENSG00000078246.11 | ENST00000397132.2,ENST00000540184.1,ENST00000448120.2 |
| exon_skip_79110 | 12 | 3031427:3031568:3039413:3039511:3040202:3040305 | 3039413:3039511 | ENSG00000078246.11 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2 |
| exon_skip_79113 | 12 | 3039413:3039511:3040071:3040105:3040202:3040305 | 3040071:3040105 | ENSG00000078246.11 | ENST00000540184.1 |
| exon_skip_79118 | 12 | 3040209:3040406:3042583:3042696:3043612:3043727 | 3042583:3042696 | ENSG00000078246.11 | ENST00000397132.2,ENST00000540184.1,ENST00000545331.1,ENST00000448120.2 |
| exon_skip_79120 | 12 | 3040202:3040406:3043612:3043727:3046796:3046895 | 3043612:3043727 | ENSG00000078246.11 | ENST00000538354.1 |
| exon_skip_79122 | 12 | 3042599:3042696:3043612:3043727:3046796:3046895 | 3043612:3043727 | ENSG00000078246.11 | ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENSG00000078246.11 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 |
| exon_skip_79125 | 12 | 3048476:3048590:3049187:3049247:3049360:3049504 | 3049187:3049247 | ENSG00000078246.11 | ENST00000541678.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TULP3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_79108 | 12 | 3018694:3018746:3029928:3030088:3031427:3031568 | 3029928:3030088 | ENSG00000078246.11 | ENST00000540184.1,ENST00000448120.2,ENST00000397132.2 |
| exon_skip_79110 | 12 | 3031427:3031568:3039413:3039511:3040202:3040305 | 3039413:3039511 | ENSG00000078246.11 | ENST00000538354.1,ENST00000448120.2,ENST00000397132.2 |
| exon_skip_79113 | 12 | 3039413:3039511:3040071:3040105:3040202:3040305 | 3040071:3040105 | ENSG00000078246.11 | ENST00000540184.1 |
| exon_skip_79118 | 12 | 3040209:3040406:3042583:3042696:3043612:3043727 | 3042583:3042696 | ENSG00000078246.11 | ENST00000540184.1,ENST00000545331.1,ENST00000448120.2,ENST00000397132.2 |
| exon_skip_79120 | 12 | 3040202:3040406:3043612:3043727:3046796:3046895 | 3043612:3043727 | ENSG00000078246.11 | ENST00000538354.1 |
| exon_skip_79122 | 12 | 3042599:3042696:3043612:3043727:3046796:3046895 | 3043612:3043727 | ENSG00000078246.11 | ENST00000544943.1,ENST00000448120.2,ENST00000397132.2 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENSG00000078246.11 | ENST00000544943.1,ENST00000538354.1,ENST00000448120.2,ENST00000397132.2 |
| exon_skip_79125 | 12 | 3048476:3048590:3049187:3049247:3049360:3049504 | 3049187:3049247 | ENSG00000078246.11 | ENST00000541678.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for TULP3 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000448120 | 3029928 | 3030088 | Frame-shift |
| ENST00000448120 | 3039413 | 3039511 | Frame-shift |
| ENST00000448120 | 3042583 | 3042696 | Frame-shift |
| ENST00000448120 | 3043612 | 3043727 | Frame-shift |
| ENST00000448120 | 3046796 | 3046895 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000448120 | 3029928 | 3030088 | Frame-shift |
| ENST00000448120 | 3039413 | 3039511 | Frame-shift |
| ENST00000448120 | 3042583 | 3042696 | Frame-shift |
| ENST00000448120 | 3043612 | 3043727 | Frame-shift |
| ENST00000448120 | 3046796 | 3046895 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TULP3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000448120 | 3093 | 442 | 3046796 | 3046895 | 976 | 1074 | 308 | 341 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000448120 | 3093 | 442 | 3046796 | 3046895 | 976 | 1074 | 308 | 341 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| O75386 | 308 | 341 | 190 | 442 | Alternative sequence | ID=VSP_055763;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75386 | 308 | 341 | 1 | 442 | Chain | ID=PRO_0000186470;Note=Tubby-related protein 3 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| O75386 | 308 | 341 | 190 | 442 | Alternative sequence | ID=VSP_055763;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75386 | 308 | 341 | 1 | 442 | Chain | ID=PRO_0000186470;Note=Tubby-related protein 3 |
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SNVs in the skipped exons for TULP3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_79108 | 3029929 | 3030088 | 3030064 | 3030064 | Frame_Shift_Del | C | - | p.P77fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_79122 exon_skip_79120 | 3043613 | 3043727 | 3043625 | 3043625 | Frame_Shift_Del | G | - | p.M274fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_79122 exon_skip_79120 | 3043613 | 3043727 | 3043635 | 3043635 | Frame_Shift_Del | T | - | p.F278fs |
| BLCA | TCGA-K4-A5RI-01 | exon_skip_79110 | 3039414 | 3039511 | 3039495 | 3039495 | Nonsense_Mutation | C | G | p.S159* |
| LUSC | TCGA-22-4593-01 | exon_skip_79110 | 3039414 | 3039511 | 3039413 | 3039413 | Splice_Site | G | C | p.D132_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| NCIH1792_LUNG | 3029929 | 3030088 | 3029963 | 3029963 | Missense_Mutation | G | A | p.R43H |
| HCC2998_LARGE_INTESTINE | 3029929 | 3030088 | 3029975 | 3029975 | Missense_Mutation | T | G | p.F47C |
| ANGMCSS_CENTRAL_NERVOUS_SYSTEM | 3029929 | 3030088 | 3029977 | 3029977 | Missense_Mutation | A | G | p.M48V |
| CORL321_PLEURA | 3029929 | 3030088 | 3030010 | 3030010 | Missense_Mutation | C | T | p.R59W |
| KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3039414 | 3039511 | 3039437 | 3039437 | Missense_Mutation | G | A | p.D140N |
| HT115_LARGE_INTESTINE | 3039414 | 3039511 | 3039467 | 3039467 | Missense_Mutation | G | A | p.A150T |
| HCC1599_BREAST | 3042584 | 3042696 | 3042608 | 3042608 | Missense_Mutation | C | T | p.R241W |
| HCC1599_MATCHED_NORMAL_TISSUE | 3042584 | 3042696 | 3042608 | 3042608 | Missense_Mutation | C | T | p.R241W |
| BT474_BREAST | 3043613 | 3043727 | 3043721 | 3043721 | Missense_Mutation | C | G | p.I306M |
| KPNRTBM1_AUTONOMIC_GANGLIA | 3046797 | 3046895 | 3046847 | 3046847 | Missense_Mutation | T | G | p.I325M |
| PECAPJ34CLONEC12_UPPER_AERODIGESTIVE_TRACT | 3046797 | 3046895 | 3046882 | 3046882 | Missense_Mutation | A | T | p.Y337F |
| KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3042584 | 3042696 | 3042682 | 3042682 | Nonsense_Mutation | T | A | p.Y265* |
| GCT_SOFT_TISSUE | 3046797 | 3046895 | 3046890 | 3046890 | Nonsense_Mutation | C | T | p.Q340* |
| SCS214_SOFT_TISSUE | 3029929 | 3030088 | 3029928 | 3029929 | Splice_Site | GA | TT | p.31_32QR>HW |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TULP3 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | GBM | rs33973716 | chr12:3046802 | A/G | 7.26e-09 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | CESC | rs33973716 | chr12:3046802 | A/G | 3.34e-06 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | COAD | rs33973716 | chr12:3046802 | A/G | 6.49e-06 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | BLCA | rs33973716 | chr12:3046802 | A/G | 3.69e-06 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | ESCA | rs33973716 | chr12:3046802 | A/G | 4.23e-14 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | HNSC | rs33973716 | chr12:3046802 | A/G | 8.43e-18 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | BRCA | rs33973716 | chr12:3046802 | A/G | 1.36e-31 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | KIRP | rs33973716 | chr12:3046802 | A/G | 3.28e-07 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | LGG | rs33973716 | chr12:3046802 | A/G | 5.77e-05 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | KIRC | rs33973716 | chr12:3046802 | A/G | 5.20e-19 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | KIRC | rs33973716 | chr12:3046802 | A/G | 5.48e-04 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | KIRC | rs33973716 | chr12:3046802 | A/G | 2.46e-03 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | LUAD | rs33973716 | chr12:3046802 | A/G | 1.61e-12 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | MESO | rs33973716 | chr12:3046802 | A/G | 1.80e-04 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | LUSC | rs33973716 | chr12:3046802 | A/G | 9.35e-13 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | OV | rs33973716 | chr12:3046802 | A/G | 1.04e-19 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | OV | rs33973716 | chr12:3046802 | A/G | 1.06e-03 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | PAAD | rs33973716 | chr12:3046802 | A/G | 8.46e-06 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | PRAD | rs33973716 | chr12:3046802 | A/G | 2.96e-08 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | SARC | rs33973716 | chr12:3046802 | A/G | 2.34e-11 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | TGCT | rs33973716 | chr12:3046802 | A/G | 5.24e-07 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | STAD | rs33973716 | chr12:3046802 | A/G | 2.11e-12 |
| exon_skip_79123 | 12 | 3043612:3043727:3046796:3046895:3047279:3047451 | 3046796:3046895 | ENST00000538354.1,ENST00000397132.2,ENST00000448120.2,ENST00000544943.1 | THCA | rs33973716 | chr12:3046802 | A/G | 3.40e-08 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TULP3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TULP3 |
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RelatedDrugs for TULP3 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TULP3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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